
Natera’s Landmark RenaCARE Study Demonstrates the Ability of Genetic Testing to Dramatically Alter Patient Management in Chronic Kidney Disease; Could Establish Foundation for New Major Genetic Testing Market
11-2-23 (by: Scott Gleason) Natera has unveiled the initial results from RenaCARE, a multisite, real-world, prospective study focused on evaluating the role of genetic testing in the chronic kidney disease (CKD) population. CKD is a rapidly growing non-communicable disease in the United States, affecting more than 37 million individuals, or approximately 1 in 7 adults. It imposes a substantial economic burden on the healthcare system, with 23.5% of Medicare spending, totaling $85.4 billion in 2020, linked to CKD management and treatment. The current standard of care for CKD diagnosis relies on basic measurements of kidney function, imaging, and histology, which often fall short in terms of accuracy and specificity. The RenaCARE study has demonstrated that genetic testing has the potential to overcome limitations of traditional diagnostic techniques by pinpointing the root causes of CKD, facilitating proper diagnosis, and enabling tailored treatment.
The RenaCARE study enrolled 1,623 CKD patients from 31 community and academic medical centers, all of whom were tested using Natera’s Renasight, a 385-gene kidney genetic test. The study revealed that 20.8% of CKD patients had positive genetic findings. Among these patients, 48.8% received new or reclassified diagnoses, and 34% received information about their disease subtype. This mutation rate is significantly higher than what is seen in other hereditary cancer testing markets such as hereditary cancer, even when utilizing multi-gene panels. Over 90% of patients with positive genetic findings experienced changes in their management, including 32.9% who had alterations in their treatment plans. Nearly half (46.0%) of enrolled patients had CKD attributed to non-specific clinical categories, such as diabetes, hypertension, hematuria, and proteinuric disease. For many of them, these conditions turned out to be comorbidities rather than the primary cause of the disease. Genetic testing identified new or reclassified diagnoses for 70% of these patients and prompted treatment plan changes for 22.5%. About 16.1% of patients were diagnosed with cystic nephropathy, where defining a subtype could significantly impact disease prognosis and treatment plans. Among these patients, 49.6% received a positive genetic result, and 79.2% received a genetic subtype confirmation, which led to treatment plan changes for 49.2%. Eight percent of patients had CKD of unknown cause, making it difficult to use specific treatment options. Among these patients, 18.2% received a positive genetic result, leading to new diagnoses for 87.5% and treatment plan changes for 23.8%. Diagnosis based solely on clinical symptoms often limits the use of available targeted therapies. In the study, 35.5% of patients with positive results received a diagnosis that could qualify them for available therapeutics. Genetic testing can also potentially eliminate the need for invasive diagnostic biopsies, which carry risks and often necessitate further clarification. The study found that 19.4% of patients who tested positive with Renasight had a biopsy before genetic testing, and 71.1% of them received a new diagnosis based on their Renasight result.
Dr. Ali Gharavi, a key investigator of the RenaCARE study, emphasized the importance of genetic testing in improving the precision of clinical diagnoses for CKD patients. He advocated for the integration of genetic testing into kidney care to initiate or alter management as early as possible. To delve deeper into unmet needs within CKD and the role of genetic testing in addressing these gaps, a white paper titled “Insights from RenaCARE: Genetics Driving Precision Medicine in Kidney Disease” has been published alongside the study’s findings.